Expressive

rs12325113 - ATXN2L - TUFM

Magnitude 2.2 · 3 studies on file

Reported associations

  • A Large Multiethnic Genome-Wide Association Study of Adult Body Mass Index Identifies Novel Loci. - Genetics (2018) · Hoffmann TJ, Choquet H, Yin J, Banda Y, Kvale MN, Glymour M, Schaefer C, Risch N, Jorgenson E · PubMed 30108127

    Body mass index (BMI), a proxy measure for obesity, is determined by both environmental (including ethnicity, age, and sex) and genetic factors, with > 400 BMI-associated loci identified to date. However, the impact, interplay, and underlying biological mechanisms among BMI, environment, genetics, and ancestry are not completely understood. To further examine these relationships, we utilized 427,509 calendar year-averaged BMI measurements from 100,418 adults from the single large multiethnic Genetic Epidemiology Research on Adult Health and Aging (GERA) cohort. We observed substantial independent ancestry and nationality differences, including ancestry principal component interactions and nonlinear effects. To increase the list of BMI-associated variants before assessing other differences,

  • Genome-wide physical activity interactions in adiposity ― A meta-analysis of 200,452 adults - Unknown journal (n.d.) · Unknown authors · PubMed 28448500

    ABSTRACT: Physical activity (PA) may modify the genetic effects that give rise to increased risk of obesity. To identify adiposity loci whose effects are modified by PA, we performed genome-wide interaction meta-analyses of BMI and BMI-adjusted waist circumference and waist-hip ratio from up to 200,452 adults of European (n = 180,423) or other ancestry (n = 20,029). We standardized PA by categorizing it into a dichotomous variable where, on average, 23% of participants were categorized as inactive and 77% as physically active. While we replicate the interaction with PA for the strongest known obesity-risk locus in the FTO gene, of which the effect is attenuated by ~30% in physically active individuals compared to inactive individuals, we do not identify additional loci that are sensitive t

  • Cross-trait genomic modeling reveals the polygenic architecture and systemic impact of MASLD - Unknown journal (n.d.) · Unknown authors · PubMed 41686896

    ABSTRACT: Metabolic dysfunction-associated steatotic liver disease (MASLD) is a globally prevalent disease, yet its genetic architecture remains incompletely characterized. We integrated genome-wide association study data from multiple cohorts totaling nearly 3 million individuals of European ancestry and applied cross-trait genomic modeling of hepatic fat and seven cardiometabolic traits to construct an MASLD-specific polygenic architecture. We identified 128 risk variants across 100 loci and prioritized 55 effector genes, including established (e.g., PNPLA3 and TM6SF2) and previously unreported candidates (e.g., NRXN3 and FRMD5). A phenome-wide scan of the MASLD polygenic risk score revealed broad associations spanning hepatic, cardiometabolic, renal, endocrine, and neuropsychiatric sy

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